Canonical Allele Identifier: CA227548

Gene: TYR

Linked Data

• ClinVar Variation Id: 99556
• ClinVar RCV Id: RCV000085937 ; RCV004529899
• dbSNP Id: rs61753188
• ExAC: 11:88911359 T / C
• gnomAD v2: 11-88911359-T-C
• gnomAD v3: 11-89178191-T-C
• gnomAD v4: 11-89178191-T-C
• MyVariant Identifiers: chr11:g.88911359T>C (hg19) ; chr11:g.89178191T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.89178191T>C , CM000673.2:g.89178191T>C	GRCh38
NC_000011.9:g.88911359T>C , CM000673.1:g.88911359T>C	GRCh37
NC_000011.8:g.88551007T>C	NCBI36
NG_008748.1:g.5320T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263321.6:c.238T>C MANE Select	ENSP00000263321.4:p.Trp80Arg
ENST00000263321.5:c.238T>C	ENSP00000263321.4:p.Trp80Arg
ENST00000526139.1:n.299T>C
NM_000372.4:c.238T>C	NP_000363.1:p.Trp80Arg
XM_011542970.1:c.238T>C	XP_011541272.1:p.Trp80Arg
XM_011542970.2:c.238T>C	XP_011541272.1:p.Trp80Arg
XR_001748321.1:n.2718-64658A>G
XR_001748322.1:n.2733-64658A>G
NM_000372.5:c.238T>C MANE Select	NP_000363.1:p.Trp80Arg